E75.2 D69.3
Conditions
Interventions
Group 1: During the single study visit enrolled thrombocytopenic patients will be diagnostically screened for eventually existing Morbus Gaucher in order to investigate the prevalence in the analyzed
Sponsors
BAG onkologische Schwerpunktpraxis
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: 1. unexplained thrombocytopenia: Platelet count ULN, male patients: Hb < 8 mmol/l (13 g/dl), female patients: Hb < 7.5 mmol/l (12 g/dl) or 3. ITP and known splenomegaly (according DGHO guidelines)
Exclusion criteria
Exclusion criteria: 1. Patients under the age of 18 2. Patients receiving cytopenia inducing treatment (e.g. chemotherapy) 3. Patients unable to state informed consent for genetic testing 4. Patients with known other causalities for thrombocytopenia e.g. viral disease (HIV, Hepatitis C), severe liver disease, autoimmune disease 5. Patients with ITP without splenomegaly (according DGHO guidelines) 6. Patients with comedication with a high probability to lead to thrombocytopenia
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary objective of this study is to evaluate the prevalence of Gaucher in a defined risk population. | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary objective of this study is to evaluate the prevalence of Gaucher disease combined with the concurrent presence of - Known visceral abnormalities (splenomegaly, hepatomegaly or both) or - Known bone issues (pain, fractures or other impairment) or - ITP with known splenomegaly (according DGHO guidelines) | — |
Countries
Germany
Contacts
Public ContactAnna Polowinski
GWT-TUD GmbH
Outcome results
None listed